Bengaluru: Lack of experts and drugs turn rare ailments fatal

Bengaluru: Four-year-old Kusuma of Subramanyapura is confined to the wheelchair, her body reduced to nothing more than an eggshell. When she was one, she developed Fibro Ossificans Progressiva (FOP), a genetic fault wherein her muscles were replaced by bones, rendering her immobile and helpless.

Similarly, Dhanya Ravi, 25, of Jeevan Bima Nagar is completely dependent on the wheelchair since she never grew up physically due to deformed bones. She suffers from Osteogenesis Imperfecta, a condition due to which her bones have become brittle, breaking and repairing themselves. "She cannot ever hug her mother as that too might shatter her bones," says Dr Meenakshi Bhatt, who treats her.

Ramya, 12, and her 9-year-old brother, Ashwin, are afflicted by a rare genetic abnormality, Lysosomal Storage. They suffer from stunted growth, clawing of hands, cloudy cornea leading to visual impairment and eventual intellectual disability because of the presence of double faulty genes in their body. Sendil, their father, a labourer who tied the knot with his first cousin, hardly knew their children would have to pay the cost of their marriage.

About 30 rare disease patients in Bengaluru and around 70 from across the state have have been picked up by the Organisation for Rare Diseases India (ORDI) for treatment. However, hundreds of patients of rare genetic diseases are left to die slowly in Karnataka due to acute dearth of gene experts, drugs and infrastructure.

Dr Meenakshi Bhatt, consultant, clinical genetics, Centre for Human Genetics (CHG), said these conditions are manageable and the patient can lead a normal life if the anomaly is detected early. "We have very few gene experts in the state. Also there are no Indian drugs, Indian pharmaceutical companies, separate departments for rare diseases in the city and district-level hospitals to provide cheaper cure to patients with rare diseases. Due to acute lack of doctors and infrastructure, these patients end up sacrificing their lives," she said. "Karnataka is teeming with victims of genetic abnormalities which make them disabled, both physically and mentally. This is mostly because the state is known for marriages within families and there remains a higher risk for the next generation to develop double faulty genes," she added.

Prasanna Kumar B Shirol, founder-member of ORDI, said, "We do not have an orphan drug policy like in the US. The government has not taken any step to set up adequate hospital units, make more gene specialists, and incentivize companies for manufacturing medicines to treat patients with rare diseases. Due to lack of basic awareness, parents living on the outskirts of the cities do not feel the necessity to bring their affected children for treatment which can save their lives."